Rare Pulmonology News
Disease Profile
Spastic paraplegia 4
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Infancy
ICD-10
G11.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SPG4; Autosomal dominant spastic paraplegia 4; Familial spastic paraplegia autosomal dominant 2;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Spastic paraplegia 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP)
Symptoms
- Decreased ability to sense vibrations in the ankles
- Exaggerated reflexes (hyperreflexia)
- Ankle spasms
- High arches in the feet (pes cavus)
- Reduced bladder control
Ataxia (lack of muscle control)Seizures
Some individuals may also experience a mild decline in cognitive function. This decline does not typically affect daily functioning.[3]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
| Babinski sign | 0003487 | |
| Brisk reflexes | 0001348 | |
| Functional motor deficit | 0004302 | |
| Impaired vibration sensation at ankles |
Decreased vibration sense at ankles
Decreased vibration sense in feet
[ more ] |
0006938 |
| Leg muscle stiffness | 0008969 | |
| Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ] |
0007340 |
| Lower limb spasticity | 0002061 | |
| Urinary urgency |
Overactive bladder
|
0000012 |
| 5%-29% of people have these symptoms | ||
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
| Distal amyotrophy |
Distal muscle wasting
|
0003693 |
|
Difficulty articulating speech
|
0001260 | |
| Hyperreflexia in upper limbs | 0007350 | |
| Pes cavus |
High-arched foot
|
0001761 |
| Urinary bladder sphincter dysfunction | 0002839 | |
| 1%-4% of people have these symptoms | ||
| Ataxia | 0001251 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Seizure | 0001250 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
| Agitation | 0000713 | |
| Apathy |
Lack of feeling, emotion, interest
|
0000741 |
| 0000006 | ||
| Degeneration of the lateral corticospinal tracts | 0002314 | |
|
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
| Depressivity |
Depression
|
0000716 |
| Disinhibition | 0000734 | |
| Genetic |
0003743 | |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Impaired vibration sensation in the lower limbs |
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs
[ more ] |
0002166 |
| Insidious onset |
Gradual onset
|
0003587 |
| Low back pain | 0003419 | |
| Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Paraplegia |
Leg paralysis
|
0010550 |
| Progressive |
Worsens with time
|
0003676 |
| Spastic gait |
Spastic walk
|
0002064 |
| Spastic paraplegia | 0001258 | |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
| 0003828 | ||
Treatment
- Medications for leg
spasticity (antispastic drugs) - Medications to assist in bladder control (anticholinergic antispasmodic drugs)
- Regular physician therapy
- Botulinum toxin and intrathecal baclofen for severe spasticity
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Spastic Paraplegia Foundation (SPF)
1605 Goularte Place
Fremont, CA 94539-7241
Telephone: 1-877-773-4483
Fax: 1-877-773-4483
E-mail: [email protected]
Website: https://sp-foundation.org/
Social Networking Websites
- RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Hereditary spastic paraplegia.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Spastic paraplegia 4. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Spastic Paraplegia Foundation, a nonprofit organization supporting spastic paraplegia, offers information on Spastic paraplegia 4
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spastic paraplegia 4. Click on the link to view a sample search on this topic.
References
- Nance MA. Hereditary Spastic Paraplegia. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
- Spastic paraplegia 4. Genetics Home Reference. January 2008; https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4. Accessed 5/27/2016.
- Dürr A, Tallaksen C, Depienne C. Spastic Paraplegia 4. GeneReveiws. Aug 16 2012; https://www.ncbi.nlm.nih.gov/books/NBK1160.
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